Works matching IS 00099163 AND DT 2017 AND VI 92 AND IP 1

Results: 19

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 80, doi. 10.1111/cge.12804

By:

Shamriz, O.;
Shaag, A.;
Yaacov, B.;
NaserEddin, A.;
Weintraub, M.;
Elpeleg, O.;
Stepensky, P.

Publication type:

Article

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 45, doi. 10.1111/cge.12958

By:

Scheuvens, R.;
Begemann, M.;
Soellner, L.;
Meschede, D.;
Raabe‐Meyer, G.;
Elbracht, M.;
Schubert, R.;
Eggermann, T.

Publication type:

Article

Mutations in CRLF1 cause familial achalasia.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 104, doi. 10.1111/cge.12953

By:

Busch, A.;
Žarković, M.;
Lowe, C.;
Jankofsky, M.;
Ganschow, R.;
Buers, I.;
Kurth, I.;
Reutter, H.;
Rutsch, F.;
Hübner, C.A.

Publication type:

Article

Genetic heterogeneity in Pakistani microcephaly families revisited.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 62, doi. 10.1111/cge.12955

By:

Ahmad, I.;
Baig, S. M.;
Abdulkareem, A. R.;
Hussain, M. S.;
Sur, I.;
Toliat, M. R.;
Nürnberg, G.;
Dalibor, N.;
Moawia, A.;
Waseem, S. S.;
Asif, M.;
Nagra, H.;
Sher, M.;
Khan, M. M. A.;
Hassan, I.;
Rehman, S. ur;
Thiele, H.;
Altmüller, J.;
Noegel, A. A.;
Nürnberg, P.

Publication type:

Article

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 99, doi. 10.1111/cge.12957

By:

Colson, C.;
Aubry, E.;
Cartigny, M.;
Rémy, A.‐A.;
Franquet, H.;
Leroy, X.;
Kéchid, G.;
Lefèvre, C.;
Besson, R.;
Cools, M.;
Spinoit, A.F.;
Sultan, C.;
Manouvrier, S.;
Philibert, P.;
Ghoumid, J.

Publication type:

Article

Baraitser-Winter cerebrofrontofacial syndrome.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 3, doi. 10.1111/cge.12864

By:

Yates, T.M.;
Turner, C.L.;
Firth, H.V.;
Berg, J.;
Pilz, D.T.

Publication type:

Article

Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 69, doi. 10.1111/cge.12951

By:

Cheng, N.;
Wang, H.;
Wu, W.;
Yang, R.;
Liu, L.;
Han, Y.;
Guo, L.;
Hu, J.;
Xu, L.;
Zhao, J.;
Liu, Q.;
Li, K.;
Wang, X.;
Chen, W.

Publication type:

Article

p.Phe508del, p.Gly542X, p.Arg1162X, p.Asn1303Lys, and p.Lys683serfsX38 mutations in CF newborn screening of Brazilian children.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 115, doi. 10.1111/cge.12903

By:

Ribas, D.I.R.;
Escaliante, C.H.;
Bortoli, C.G.;
de Oliveira, C.R.F.;
Mikami, L.R.;
Riedi, C.A.;
Raskin, S.;
Rosário Filho, N.A.;
Pereira‐Ferrari, L.

Publication type:

Article

A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 112, doi. 10.1111/cge.12907

By:

Chatron, N.;
Lesca, G.;
Labalme, A.;
Rollat‐Farnier, P.A.;
Monin, P.;
Pichot, E.;
Edery, P.;
Sanlaville, D.;
Rossi, M.

Publication type:

Article

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 109, doi. 10.1111/cge.12909

By:

Audo, I.;
El Shamieh, S.;
Méjécase, C.;
Michiels, C.;
Demontant, V.;
Antonio, A.;
Condroyer, C.;
Boyard, F.;
Letexier, M.;
Saraiva, J.‐P.;
Blanchard, S.;
Mohand‐Saïd, S.;
Sahel, J.‐A.;
Zeitz, C.

Publication type:

Article

Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 117, doi. 10.1111/cge.12925

By:

Tello, C.;
Darling, A.;
Lupo, V.;
Ortez, C.I.;
Pérez‐Dueñas, B.;
Espinós, C.

Publication type:

Article

Genetic profiling of children with advanced cholestatic liver disease.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 52, doi. 10.1111/cge.12959

By:

Shagrani, M.;
Burkholder, J.;
Broering, D.;
Abouelhoda, M.;
Faquih, T.;
El‐Kalioby, M.;
Subhani, S.N.;
Goljan, E.;
Albar, R.;
Monies, D.;
Mazhar, N.;
AlAbdulaziz, B.S.;
Abdelrahman, K.A.;
Altassan, N.;
Alkuraya, F.S.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2017, v. 92, n. 1, p. 1, doi. 10.1111/cge.12940
Publication type:: Article

CHARGE syndrome gastrointestinal involvement: from mouth to anus.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 10, doi. 10.1111/cge.12892

By:

Hudson, A.;
Macdonald, M.;
Friedman, J.N.;
Blake, K.

Publication type:

Article

The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 26, doi. 10.1111/cge.12895

By:

Kletke, S.;
Batmanabane, V.;
Dai, T.;
Vincent, A.;
Li, S.;
Gordon, K.A.;
Papsin, B.C.;
Cushing, S.L.;
Héon, E.

Publication type:

Article

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 91, doi. 10.1111/cge.12964

By:

Barraza‐García, J.;
Rivera‐Pedroza, C.I.;
Hisado‐Oliva, A.;
Belinchón‐Martínez, A.;
Sentchordi‐Montané, L.;
Duncan, E.L.;
Clark, G.R.;
del Pozo, A.;
Ibáñez‐Garikano, K.;
Offiah, A.;
Prieto‐Matos, P.;
Cormier‐Daire, V.;
Heath, K.E.

Publication type:

Article

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 86, doi. 10.1111/cge.12967

By:

Baumann, M.;
Steichen‐Gersdorf, E.;
Krabichler, B.;
Müller, T.;
Janecke, A.R.

Publication type:

Article

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 18, doi. 10.1111/cge.12841

By:

Di Nottia, M.;
Masciullo, M.;
Verrigni, D.;
Petrillo, S.;
Modoni, A.;
Rizzo, V.;
Di Giuda, D.;
Rizza, T.;
Niceta, M.;
Torraco, A.;
Bianchi, M.;
Santoro, M.;
Bentivoglio, A.R.;
Bertini, E.;
Piemonte, F.;
Carrozzo, R.;
Silvestri, G.

Publication type:

Article

Alport syndrome: impact of digenic inheritance in patients management.

Published in:

Clinical Genetics, 2017, v. 92, n. 1, p. 34, doi. 10.1111/cge.12919

By:

Fallerini, C.;
Baldassarri, M.;
Trevisson, E.;
Morbidoni, V.;
La Manna, A.;
Lazzarin, R.;
Pasini, A.;
Barbano, G.;
Pinciaroli, A.R.;
Garosi, G.;
Frullanti, E.;
Pinto, A.M.;
Mencarelli, M.A.;
Mari, F.;
Renieri, A.;
Ariani, F.

Publication type:

Article